Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431629G= , CM000663.2:g.229431629G= | GRCh38 |
| NC_000001.10:g.229567376G= , CM000663.1:g.229567376G= | GRCh37 |
| NC_000001.9:g.227633999G= | NCBI36 |
| NG_006672.1:g.7468C= , LRG_429:g.7468C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.991-65C= | ENSP00000355644.4:n.991-65C= | |
| ENST00000684723.1:c.869C= | ENSP00000508084.1:p.Pro290= | |
| ENST00000366683.3:c.635C= | ENSP00000355644.3:p.Pro212= | |
| ENST00000366684.7:c.1004C= MANE Select | ENSP00000355645.3:p.Pro335= | |
| NM_001100.3:c.1004C= , LRG_429t1:c.1004C= | NP_001091.1:p.Pro335= | |
| NM_001100.4:c.1004C= MANE Select | NP_001091.1:p.Pro335= |